M387R (p.Met387Arg) variant of TBCD (Tubulin-specific chaperone D)
M387R (p.Met387Arg) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
M387R (p.Met387Arg) variant details
- p.Met387Arg
- rs886041086
- ClinGen CA10602688
- ClinVar RCV000258898
- UniProt VAR 077971
- Pathogenic
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.93
- MetaLR 0.26
- MetaSVM -0.64
- PolyPhen-2 0.73
- SIFT 0.00
- EVE 0.53
- ClinVar: Pathogenic (Early-onset progressive diffuse brain atrophy-microcephaly-muscl)
- EBI: Pathogenic (in PEBAT)
- UniProt: Pathogenic (in PEBAT)
- Structural context available
- Cited in: Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. (PMID 27666374)
- Cited in: Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause… (PMID 27666370)